Genetic variants in embryonic lethal, abnormal vision, Drosophila-like 4 (ELAVL4) have been reported to be associated with onset age of Parkinson disease (PD) or risk for PD affection in Caucasian populations. In the current study we genotyped three single nucleotide polymorphisms in ELAVL4 in a Caucasian study sample consisting of 712 PD patients and 312 unrelated controls from the GenePD study. The minor allele of rs967582 was associated with increased risk of PD (odds ratio = 1.46, nominal P value = 0.011) in the GenePD population. The minor allele of rs967582 was also the risk allele for PD affection or earlier onset age in the previously studied populations. This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene.
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http://dx.doi.org/10.1007/s00439-008-0526-4 | DOI Listing |
Pharmacogenet Genomics
January 2025
Department of Clinical Pharmacy, University of Michigan College of Pharmacy, Ann Arbor, Michigan.
Ibrutinib treatment is often complicated by cardiovascular side effects (CVSEs). The objective of this retrospective pharmacogenetic study is to replicate a previously reported association of 'high-risk' patients, who are homozygous carriers of at least two of GATA4 rs804280 AA, KCNQ1 rs163182 GG, and KCNQ1 rs2237895 AA, with increased risk of hypertension or atrial fibrillation, and explore associations for other pharmacogenes (e.g.
View Article and Find Full Text PDFBiomed Tech (Berl)
January 2025
Department of Mechanical Engineering, Faculty of Engineering, Imperial College London, London, UK.
Globally, the prevalence of stroke is significant and increasing annually. This growth has led to a demand for rehabilitation services that far exceeds the supply, leaving many stroke survivors without adequate rehabilitative care. In response to this challenge, this study introduces a portable exoskeleton system that integrates neural control mechanisms governing human arm movements.
View Article and Find Full Text PDFElife
January 2025
Translational Science and Therapeutics Division, Human Biology Division, Fred Hutchinson Cancer Center, Seattle, United States.
The association between late replication timing and low transcription rates in eukaryotic heterochromatin is well known, yet the specific mechanisms underlying this link remain uncertain. In , the histone deacetylase Sir2 is required for both transcriptional silencing and late replication at the repetitive ribosomal DNA (rDNA) arrays. We have previously reported that in the absence of , a de-repressed RNA PolII repositions MCM replicative helicases from their loading site at the ribosomal origin, where they abut well-positioned, high-occupancy nucleosomes, to an adjacent region with lower nucleosome occupancy.
View Article and Find Full Text PDFJ Med Virol
January 2025
Unit of Infectious Diseases, Hospital Universitario "12 de Octubre", Instituto de Investigación Sanitaria Hospital "12 de Octubre" (imas12), Madrid, Spain.
The impact of human cytomegalovirus (HCMV) infection on the mid- and long-term balance between pro-inflammatory and anti-inflammatory cytokines among kidney transplant recipients (KTRs) remains unclear. We measured plasma levels of 12 Th1/Th2-type cytokines (granulocyte-macrophage colony-stimulating factor, interferon-γ, interleukin [IL]-1β, IL-2, IL-4, IL-5, IL-6, IL-10, IL-12p70, IL-13, IL-18 and tumor necrosis factor-α) in a cohort of 290 KTRs at four time points through month 12 after transplantation. Cytokine levels at each point were compared according to the previous documentation of HCMV replication by two approaches: "cumulative exposure" from the time of transplantation and "recent exposure" within the 2-3 months preceding cytokine assessment.
View Article and Find Full Text PDFAlcohol Res
January 2025
Center for Opioid Epidemiology and Policy, Division of Epidemiology, Department of Population Health, New York University Grossman School of Medicine, New York, New York.
Background: Firearm violence remains a leading cause of death and injury in the United States. Prior research supports that alcohol exposures, including individual-level alcohol use and alcohol control policies, are modifiable risk factors for firearm violence, yet additional research is needed to support prevention efforts.
Objectives: This scoping review aims to update a prior 2016 systematic review on the links between alcohol exposure and firearm violence to examine whether current studies indicate causal links between alcohol use, alcohol interventions, and firearm violence-related outcomes.
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